A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3364233



Internal ID15211211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45666703..45668601hg38UCSC Ensembl
Innerchr17:45667601..45667703hg38UCSC Ensembl
Outerchr17:45665703..45669601hg38UCSC Ensembl
chr17:43744069..43745967hg19UCSC Ensembl
Innerchr17:43744967..43745069hg19UCSC Ensembl
Outerchr17:43743069..43746967hg19UCSC Ensembl
chr17:41099852..41101750hg18UCSC Ensembl
Innerchr17:41100852..41100750hg18UCSC Ensembl
Outerchr17:41098852..41102750hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8690876
SamplesNA19239
Known GenesCRHR1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3364233
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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